Varaico: Literature-Extracted Genetic Variants

Gene:UBA52
Variant:p.L69P
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UBA52

NM_001033930.3:p.L69P

Associated Papers

Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Brodehl A et al.

Biophysical Reviews, 2018

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

Sergeev YV et al.

Human Molecular Genetics, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."